Istanbul Faculty of Medicine (Istanbul University), ISTUNI_MEDGEN
General information
Personnel
- Agharza Aghayev, Principal Investigator
Phone: 90 212 414 2000
Email: [email protected] - Evrim Bayrak, Principal Investigator
Phone: 90 212 414 2000
Email: [email protected] - Ayca Dilruba Aslanger, Principal Investigator
Phone: 90 212 414 2000
Email: [email protected] - Cagri Gulec, Principal Investigator
Phone: 90 212 414 2000
Email: [email protected] - Guven Toksoy, Principal Investigator
Phone: 90 212 414 2000
Email: [email protected] - G. Tutku Turgut, Principal Investigator
Phone: 90 212 414 2000
Email: [email protected] - Oya Uyguner, Lab Director
Phone: 0212 414 2000 (32327)
Email: [email protected] - Gozde Yesil Sayin, Medical Director
Phone: 90 212 414 2000
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 92
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS2 | 2 | Apr 21, 2021 |
| ACTC1 | 1 | Sep 15, 2023 |
| ALG8 | 1 | Apr 21, 2021 |
| BEND4 | 1 | Nov 5, 2020 |
| BLTP1 | 1 | Aug 22, 2023 |
| BRIP1 | 1 | Mar 17, 2020 |
| COG6 | 1 | Aug 22, 2023 |
| COL1A1 | 5 | Apr 29, 2024 |
| COL1A2 | 3 | Oct 5, 2022 |
| CRLF1 | 2 | Apr 8, 2022 |
| CUL7 | 1 | Sep 17, 2021 |
| DCX | 1 | Jun 7, 2022 |
| DLK1 | 2 | Jun 23, 2023 |
| DNAH9 | 2 | Aug 22, 2023 |
| DNAJC21 | 1 | Jul 20, 2023 |
| EARS2 | 2 | Jun 30, 2020 |
| ECHS1 | 2 | Feb 24, 2023 |
| FANCA | 12 | Jun 7, 2022 |
| FANCE | 1 | Mar 17, 2020 |
| FANCF | 1 | Jun 7, 2022 |
| FREM2 | 1 | Nov 14, 2022 |
| GALT | 5 | Sep 3, 2022 |
| GHRHR | 1 | Apr 21, 2021 |
| GJD2-DT | 1 | Sep 15, 2023 |
| HEXA | 1 | Sep 8, 2022 |
| HSPG2 | 1 | Aug 22, 2023 |
| HTRA1 | 1 | Aug 26, 2020 |
| JAG1 | 5 | Aug 7, 2023 |
| KLHL40 | 1 | Aug 22, 2023 |
| KLHL7 | 2 | Aug 22, 2023 |
| LOC109611589 | 1 | May 29, 2020 |
| LOC126859871 | 1 | Jun 15, 2021 |
| LOC129993734 | 1 | Apr 8, 2023 |
| LOC130001683 | 1 | Jan 10, 2022 |
| LOC130059837 | 1 | Jun 7, 2022 |
| LRRK2 | 1 | Jul 12, 2023 |
| NDUFAF6 | 1 | Apr 21, 2021 |
| NEB | 3 | Aug 22, 2023 |
| NOTCH3 | 4 | Aug 26, 2020 |
| OXCT1 | 2 | Apr 21, 2021 |
| P3H1 | 1 | Apr 1, 2024 |
| POLR1C | 2 | Apr 21, 2021 |
| PRKN | 1 | Jun 15, 2021 |
| PSAT1 | 1 | Aug 22, 2023 |
| RAPSN | 2 | Aug 22, 2023 |
| RELN | 1 | Jun 7, 2022 |
| RETREG1 | 1 | Apr 8, 2023 |
| RETREG1-AS1 | 1 | Apr 8, 2023 |
| RIF1 | 1 | Aug 22, 2023 |
| RUNX2 | 10 | Aug 28, 2020 |
| SMARCAL1 | 1 | Apr 21, 2021 |
| SUPT3H | 1 | May 29, 2020 |
| USP14 | 1 | Nov 18, 2021 |
| WASHC5 | 1 | Aug 22, 2023 |
| ZNF276 | 1 | Mar 17, 2020 |